Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
Thrombocythemia 3 |
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Thrombocytosis |
OMIM:614521 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Asplenia, Isolated Congenital |
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Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Juvenile Arthritis |
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Leukocytosis, Thrombocytosis |
OMIM:618795 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Polycythemia Vera |
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Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Elevated circulating C-react... |
OMIM:604416 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
Chronic Myeloid Leukemia |
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Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Immunodeficiency 27A |
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Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy... |
OMIM:209950 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Essential Thrombocythemia |
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Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... |
ORPHA:3318 |
Heme Oxygenase 1 Deficiency |
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Increased circulating ferritin concentration, Coombs-positive hemolytic anemia, Thrombocytosis, E... |
OMIM:614034 |
Primary Myelofibrosis |
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Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Sickle Cell Anemia |
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Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Red Cell Phospholipid Defect With Hemolysis |
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Splenomegaly, Hyperbilirubinemia, Reticulocytosis |
OMIM:179700 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia |
OMIM:226300 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis |
ORPHA:134 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Lymphopenia, Leukopenia, Nail dystrophy, Anemia, Thrombocytosis, Elevated circulating C-reactive ... |
OMIM:615934 |
Transient Neonatal Diabetes Mellitus |
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Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... |
ORPHA:99886 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Immunodeficiency 92 |
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Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
Type 1 Diabetes Mellitus |
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Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichosis, Hypoglycemia, Hy... |
OMIM:262190 |
Lipodystrophy, Familial Partial, Type 3 |
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Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Recurrent hypoglycemia, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Nonketotic hypog... |
ORPHA:20 |
Celiac Disease, Susceptibility To, 1 |
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Type I diabetes mellitus, Alopecia, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Thro... |
OMIM:212750 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Fine hair, Trichor... |
OMIM:222470 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Mody |
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Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
Poems Syndrome |
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Polycythemia, Hypertrichosis, Leukonychia, Splenomegaly, Thrombocytosis, Diabetes mellitus |
ORPHA:2905 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho... |
OMIM:243150 |
Neuroleptic Malignant Syndrome |
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Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... |
ORPHA:94093 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
Rh-Null, Amorph Type |
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Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis... |
OMIM:615688 |
Spherocytosis, Type 4 |
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Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:612653 |
Autoerythrocyte Sensitization Syndrome |
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Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... |
ORPHA:324636 |
Insulin-Resistance Syndrome Type B |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
Elliptocytosis 2 |
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Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Spherocytosis, Type 2 |
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Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
Syndromic Diarrhea |
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Trichorrhexis nodosa, Lymphopenia, Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Uncomb... |
ORPHA:84064 |
Diabetes And Deafness, Maternally Inherited |
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Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... |
OMIM:301074 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis |
OMIM:212065 |
Diamond-Blackfan Anemia |
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Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Polycythemia Vera |
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Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis |
ORPHA:729 |
Interstitial Lung And Liver Disease |
|
Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia, Thrombocytosis |
OMIM:615486 |
Lipodystrophy, Familial Partial, Type 1 |
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Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:608600 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis |
ORPHA:71493 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia |
ORPHA:681 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria |
ORPHA:2089 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Cogan Syndrome |
|
Anemia, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
Cole Disease |
|
Abnormal blood phosphate concentration, Abnormal hair morphology, Hyperglycemia |
OMIM:615522 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level |
OMIM:605115 |
Kawasaki Disease |
|
Hypoalbuminemia, Abnormality of nail color, Leukocytosis, Thrombocytosis, Elevated circulating C-... |
ORPHA:2331 |
Brucellosis |
|
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Thrombocytosis, ... |
ORPHA:1304 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Leukocytosis, Thrombocytosis |
OMIM:618213 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Neutropenia, Thrombocyto... |
ORPHA:391673 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... |
OMIM:608612 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hypertrichosis, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia |
OMIM:246200 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia |
OMIM:619737 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Hirsutism |
OMIM:175700 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level |
OMIM:103900 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus |
OMIM:615710 |
Leukocyte Adhesion Deficiency |
|
Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, Leukocytosis, Nail dystrophy,... |
ORPHA:2968 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hyperammonemia, Hypoglycemia |
OMIM:615453 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac... |
OMIM:227810 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Dend Syndrome |
|
Elevated hemoglobin A1c, Hyperglycemia |
ORPHA:79134 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Glycosuria, Hypophosphatemia, Fasting hypoglycemia, Hypertriglyceride... |
ORPHA:2088 |
Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... |
ORPHA:3008 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Hyperglycemia, Splenomegaly, Abnormality of iron ho... |
ORPHA:465508 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Premature gr... |
ORPHA:769 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypercholesterolemia, Leukocytosis |
ORPHA:90065 |
Doors Syndrome |
|
Thrombocytosis, Low anterior hairline |
ORPHA:79500 |
Short Syndrome |
|
Insulin resistance, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hypernatremia |
OMIM:620423 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, H... |
OMIM:248370 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia |
OMIM:615954 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Anemia, Hypochromic microcytic anemia |
ORPHA:440713 |
Alstrom Syndrome |
|
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hypertriglyceride... |
OMIM:203800 |
Pancreatic And Cerebellar Agenesis |
|
Anemia, Hyperglycemia, Diabetes mellitus, Hypoglycemia |
OMIM:609069 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:320 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Alopecia, Hirsutism, Decreased circulating renin level |
ORPHA:90795 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Alopecia, Glycosuria, Insulin-resistant diabetes mellitus, Premature graying... |
ORPHA:79474 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Absent axillary hair, Absent pubic hair, Decreased circulating renin level |
ORPHA:90793 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Hypertrichosis, Hyperinsul... |
ORPHA:508 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Transient hypophosphatemia, Hyp... |
ORPHA:79102 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Hypertyrosinemia, Brittle hair |
OMIM:124000 |
Scorpion Envenomation |
|
Glycosuria, Hyperglycemia, Hypokalemia, Increased circulating creatine kinase MB isoform, Increas... |
ORPHA:466677 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria |
ORPHA:99885 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Facial hirsutism, Long eyelashes, Thick eyebrow, Hyperglycemia, Thick hair... |
ORPHA:444077 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Highly arched eyebrow, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hirsutism, Low anterior hairline |
OMIM:220111 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperglycemia, Hyperlipidemia |
ORPHA:293987 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Bardet-Biedl Syndrome |
|
Insulin resistance, Decreased HDL cholesterol concentration, Impaired fasting glucose, Type II di... |
ORPHA:110 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level |
OMIM:201750 |